A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067035



Internal ID18809566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46177128hg38UCSC Ensembl
Innerchr17:44166270..44254494hg19UCSC Ensembl
Innerchr17:41522088..41610271hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3888225
hg1988225
hg1888184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3720522, nssv3548422, nssv3720521
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067035
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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